Canonical Allele Identifier: CA2633163769

Gene: NOD2

Linked Data

• gnomAD v4: 16-50710620-CTCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50710622_50710625del , CM000678.2:g.50710622_50710625del	GRCh38
NC_000016.9:g.50744533_50744536del , CM000678.1:g.50744533_50744536del	GRCh37
NC_000016.8:g.49302034_49302037del	NCBI36
NG_007508.1:g.18484_18487del , LRG_177:g.18484_18487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.630_633del	ENSP00000493088.1:p.Ser211ProfsTer?
ENST00000646677.2:c.630_633del	ENSP00000496533.1:p.Ser211ProfsTer?
ENST00000641284.1:c.630_633del	ENSP00000493088.1:p.Ser211ProfsTer?
ENST00000646677.1:c.630_633del	ENSP00000496533.1:p.Ser211ProfsTer?
ENST00000647318.2:c.630_633del MANE Select	ENSP00000495993.1:p.Ser211ProfsTer?
ENST00000300589.6:c.711_714del	ENSP00000300589.2:p.Ser238ProfsTer?
ENST00000526417.6:n.771_774del
ENST00000527070.5:c.*1326_*1329del	ENSP00000435149.1:n.*1326_*1329del
ENST00000532206.1:n.709_712del
NM_001293557.1:c.630_633del	NP_001280486.1:p.Ser211ProfsTer?
NM_022162.2:c.711_714del	NP_071445.1:p.Ser238ProfsTer?
XM_005256084.2:c.630_633del	XP_005256141.1:p.Ser211ProfsTer?
XM_006721242.2:c.630_633del	XP_006721305.1:p.Ser211ProfsTer?
XM_006721243.2:c.630_633del	XP_006721306.1:p.Ser211ProfsTer?
XM_011523257.1:c.207_210del	XP_011521559.1:p.Ser70ProfsTer?
XM_011523258.1:c.207_210del	XP_011521560.1:p.Ser70ProfsTer?
XM_011523259.1:c.45_48del	XP_011521561.1:p.Ser16ProfsTer?
XM_011523260.1:c.630_633del	XP_011521562.1:p.Ser211ProfsTer?
XM_011523261.1:c.630_633del	XP_011521563.1:p.Ser211ProfsTer?
XR_429725.2:n.720_723del
XR_429726.2:n.720_723del
XR_933387.1:n.720_723del
XM_005256084.4:c.630_633del	XP_005256141.1:p.Ser211ProfsTer?
XM_006721242.4:c.630_633del	XP_006721305.1:p.Ser211ProfsTer?
XM_006721243.4:c.630_633del	XP_006721306.1:p.Ser211ProfsTer?
XM_011523259.2:c.45_48del	XP_011521561.1:p.Ser16ProfsTer?
XM_011523260.3:c.630_633del	XP_011521562.1:p.Ser211ProfsTer?
XM_011523261.2:c.630_633del	XP_011521563.1:p.Ser211ProfsTer?
XM_017023535.1:c.138_141del	XP_016879024.1:p.Ser47ProfsTer?
XM_017023536.1:c.45_48del	XP_016879025.1:p.Ser16ProfsTer?
XM_017023537.1:c.45_48del	XP_016879026.1:p.Ser16ProfsTer?
XM_017023538.1:c.45_48del	XP_016879027.1:p.Ser16ProfsTer?
XR_429725.3:n.673_676del
XR_429726.3:n.673_676del
XR_933387.2:n.673_676del
NM_001293557.2:c.630_633del	NP_001280486.1:p.Ser211ProfsTer?
NM_001370466.1:c.630_633del MANE Select	NP_001357395.1:p.Ser211ProfsTer?
NM_022162.3:c.711_714del	NP_071445.1:p.Ser238ProfsTer?
NR_163434.1:n.695_698del